| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +9 more | GPathogenic/Likely pathogenic |
| | | Insertion (inframe_insertion) | Osteogenesis imperfecta type III | |
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